CleftGeneDB-Search

Gene: PHC2

Basic information

Tag	Content
Uniprot ID	Q8IXK0; A1L4Q1; A8KA40; D3DPR2; Q2TAL3; Q5T0C1; Q6NUJ6; Q6ZQR1; Q8N306; Q8TAG8; Q96BL4; Q9Y4Y7;
Entrez ID	1912
Genbank protein ID	AAH15450.1; AAH68573.1; AAH29269.1; CAD11673.1; AAI10864.2; AAI30631.1; CAB44779.1; EAX07458.1; AAH28396.3; BAC87622.1; EAX07459.1; BAF85594.1; EAX07457.1; AAH92492.1;
Genbank nucleotide ID	XM_017000518.1; XM_017000516.1; NM_198040.2; NM_004427.3; XM_005270570.1; XM_017000517.1;
Ensembl protein ID	ENSP00000362517; ENSP00000257118;
Ensembl nucleotide ID	ENSG00000134686
Gene name	Polyhomeotic-like protein 2
Gene symbol	PHC2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility.
Sequence	MENELPVPHT SSSACATSST SGASSSSGCN NSSSGGSGRP TGPQISVYSG IPDRQTVQVI 60 QQALHRQPST AAQYLQQMYA AQQQHLMLQT AALQQQHLSS AQLQSLAAVQ QASLVSNRQG 120 STSGSNVSAQ APAQSSSINL AASPAAAQLL NRAQSVNSAA ASGIAQQAVL LGNTSSPALT 180 ASQAQMYLRA QMLIFTPTAT VATVQPELGT GSPARPPTPA QVQNLTLRTQ QTPAAAASGP 240 TPTQPVLPSL ALKPTPGGSQ PLPTPAQSRN TAQASPAGAK PGIADSVMEP HKKGDGNSSV 300 PGSMEGRAGL SRTVPAVAAH PLIAPAYAQL QPHQLLPQPS SKHLQPQFVI QQQPQPQQQQ 360 PPPQQSRPVL QAEPHPQLAS VSPSVALQPS SEAHAMPLGP VTPALPLQCP TANLHKPGGS 420 QQCHPPTPDT GPQNGHPEGV PHTPQRRFQH TSAVILQLQP ASPPQQCVPD DWKEVAPGEK 480 SVPETRSGPS PHQQAIVTAM PGGLPVPTSP NIQPSPAHET GQGIVHALTD LSSPGMTSGN 540 GNSASSIAGT APQNGENKPP QAIVKPQILT HVIEGFVIQE GAEPFPVGRS SLLVGNLKKK 600 YAQGFLPEKL PQQDHTTTTD SEMEEPYLQE SKEEGAPLKL KCELCGRVDF AYKFKRSKRF 660 CSMACAKRYN VGCTKRVGLF HSDRSKLQKA GAATHNRRRA SKASLPPLTK DTKKQPTGTV 720 PLSVTAALQL THSQEDSSRC SDNSSYEEPL SPISASSSTS RRRQGQRDLE LPDMHMRDLV 780 GMGHHFLPSE PTKWNVEDVY EFIRSLPGCQ EIAEEFRAQE IDGQALLLLK EDHLMSAMNI 840 KLGPALKIYA RISMLKDS 858

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PHC2	537511	E1BFG7		Bos taurus	Prediction	More>>
1:1 ortholog	PHC2	487297	J9P8A4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PHC2		A0A452F0Q9		Capra hircus	Prediction	More>>
1:1 ortholog	PHC2	1912	Q8IXK0		Homo sapiens	Prediction	More>>
1:1 ortholog	Phc2	54383	Q9QWH1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PHC2	456729	H2PYL7		Pan troglodytes	Prediction	More>>
1:1 ortholog	PHC2		I3LIR0		Sus scrofa	Prediction	More>>
1:1 ortholog	PHC2	100351541	G1T576		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Phc2	313038	D4A0M3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	phc2b	394177	F6P2R0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1227108458	p.Glu4Ter	stop gained	-	NC_000001.11:g.33375530C>A	gnomAD
rs1325007745	p.Pro6Leu	missense variant	-	NC_000001.11:g.33375523G>A	TOPMed,gnomAD
rs917326939	p.Pro8Ser	missense variant	-	NC_000001.11:g.33375518G>A	TOPMed
rs773205424	p.His9Arg	missense variant	-	NC_000001.11:g.33375514T>C	ExAC,TOPMed,gnomAD
rs1397060162	p.Thr10Ile	missense variant	-	NC_000001.11:g.33375511G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser11Tyr	missense variant	-	NC_000001.11:g.33375508G>T	NCI-TCGA
rs747806840	p.Ser11Thr	missense variant	-	NC_000001.11:g.33375509A>T	ExAC,gnomAD
rs746530992	p.Ala14Val	missense variant	-	NC_000001.11:g.33375499G>A	ExAC,TOPMed,gnomAD
rs746530992	p.Ala14Gly	missense variant	-	NC_000001.11:g.33375499G>C	ExAC,TOPMed,gnomAD
rs1168097520	p.Cys15Gly	missense variant	-	NC_000001.11:g.33375497A>C	gnomAD
rs142896193	p.Ser19Ile	missense variant	-	NC_000001.11:g.33375484C>A	ESP,ExAC,gnomAD
rs142896193	p.Ser19Asn	missense variant	-	NC_000001.11:g.33375484C>T	ESP,ExAC,gnomAD
rs750784189	p.Thr20Ile	missense variant	-	NC_000001.11:g.33375481G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser21Asn	missense variant	-	NC_000001.11:g.33375478C>T	NCI-TCGA
rs1258904112	p.Gly22Val	missense variant	-	NC_000001.11:g.33375475C>A	TOPMed
rs542882231	p.Gly22Arg	missense variant	-	NC_000001.11:g.33375476C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1459289507	p.Ala23Thr	missense variant	-	NC_000001.11:g.33375473C>T	gnomAD
rs1175954226	p.Ser24Asn	missense variant	-	NC_000001.11:g.33375469C>T	TOPMed
rs982056475	p.Ser25Gly	missense variant	-	NC_000001.11:g.33375467T>C	TOPMed
rs753965502	p.Ser26Cys	missense variant	-	NC_000001.11:g.33375464T>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys29Ter	stop gained	-	NC_000001.11:g.33375453G>T	NCI-TCGA
rs1337867376	p.Cys29Tyr	missense variant	-	NC_000001.11:g.33375454C>T	gnomAD
rs764381431	p.Asn31His	missense variant	-	NC_000001.11:g.33375449T>G	ExAC,gnomAD
rs1313795875	p.Gly35Asp	missense variant	-	NC_000001.11:g.33375436C>T	gnomAD
rs1170054687	p.Gly35Arg	missense variant	-	NC_000001.11:g.33375437C>G	TOPMed,gnomAD
rs760777564	p.Gly36Arg	missense variant	-	NC_000001.11:g.33375434C>T	ExAC,gnomAD
rs1378415107	p.Gly36Ala	missense variant	-	NC_000001.11:g.33375433C>G	gnomAD
NCI-TCGA novel	p.Ser37Gly	missense variant	-	NC_000001.11:g.33375431T>C	NCI-TCGA
rs752879166	p.Ser37Arg	missense variant	-	NC_000001.11:g.33375429A>C	ExAC,gnomAD
rs368911062	p.Arg39His	missense variant	-	NC_000001.11:g.33375424C>T	ESP,ExAC,TOPMed,gnomAD
rs145654669	p.Arg39Cys	missense variant	-	NC_000001.11:g.33375425G>A	ESP,ExAC,TOPMed,gnomAD
rs769429979	p.Gly42Arg	missense variant	-	NC_000001.11:g.33375416C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln44His	missense variant	-	NC_000001.11:g.33375408C>A	NCI-TCGA
rs974534850	p.Ile45Phe	missense variant	-	NC_000001.11:g.33375407T>A	TOPMed
NCI-TCGA novel	p.Ser46Phe	missense variant	-	NC_000001.11:g.33375403G>A	NCI-TCGA
rs1441648414	p.Ser49Arg	missense variant	-	NC_000001.11:g.33375395T>G	gnomAD
rs1304825877	p.Ser49Asn	missense variant	-	NC_000001.11:g.33375394C>T	TOPMed
rs1233468445	p.Gly50Asp	missense variant	-	NC_000001.11:g.33375391C>T	gnomAD
rs761703005	p.Arg54Gln	missense variant	-	NC_000001.11:g.33375379C>T	ExAC,gnomAD
rs773596075	p.Arg54Trp	missense variant	-	NC_000001.11:g.33375380G>A	TOPMed,gnomAD
rs572369078	p.Thr56Asn	missense variant	-	NC_000001.11:g.33375373G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148368561	p.Val57Ala	missense variant	-	NC_000001.11:g.33375370A>G	ESP,TOPMed
rs746508855	p.Val57Met	missense variant	-	NC_000001.11:g.33375371C>T	ExAC,TOPMed,gnomAD
rs1361146833	p.Val59Met	missense variant	-	NC_000001.11:g.33372447C>T	TOPMed
NCI-TCGA novel	p.Ile60Met	missense variant	-	NC_000001.11:g.33372442G>C	NCI-TCGA
rs776547529	p.Ala63Asp	missense variant	-	NC_000001.11:g.33372434G>T	ExAC,gnomAD
rs377077362	p.Thr70Met	missense variant	-	NC_000001.11:g.33372413G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs890610555	p.Ala72Thr	missense variant	-	NC_000001.11:g.33372408C>T	TOPMed,gnomAD
rs774662828	p.Ala72Val	missense variant	-	NC_000001.11:g.33372407G>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr74Ter	stop gained	-	NC_000001.11:g.33372400G>T	NCI-TCGA
rs1434810296	p.Tyr74His	missense variant	-	NC_000001.11:g.33372402A>G	TOPMed
COSM4843982	p.Gln77His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33372391C>G	NCI-TCGA Cosmic
rs771525735	p.Gln77Glu	missense variant	-	NC_000001.11:g.33372393G>C	ExAC,gnomAD
rs1196273564	p.Met78Ile	missense variant	-	NC_000001.11:g.33372388C>T	gnomAD
COSM908430	p.Tyr79His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33372387A>G	NCI-TCGA Cosmic
rs1242076849	p.Ala80Thr	missense variant	-	NC_000001.11:g.33372384C>T	TOPMed,gnomAD
rs201814819	p.Ala81Thr	missense variant	-	NC_000001.11:g.33372381C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1264383687	p.His85Asp	missense variant	-	NC_000001.11:g.33372369G>C	gnomAD
rs756379404	p.Leu86Phe	missense variant	-	NC_000001.11:g.33372366G>A	ExAC,gnomAD
rs375458768	p.Ala91Thr	missense variant	-	NC_000001.11:g.33372351C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755045183	p.Ala91Val	missense variant	-	NC_000001.11:g.33372350G>A	ExAC,TOPMed,gnomAD
rs751676989	p.Ala92Val	missense variant	-	NC_000001.11:g.33372347G>A	ExAC,TOPMed,gnomAD
rs1173042284	p.Leu93Phe	missense variant	-	NC_000001.11:g.33372345G>A	TOPMed,gnomAD
rs1429502467	p.Gln95Glu	missense variant	-	NC_000001.11:g.33372339G>C	TOPMed,gnomAD
rs1419182459	p.Gln96Lys	missense variant	-	NC_000001.11:g.33372336G>T	gnomAD
rs1185289821	p.His97Tyr	missense variant	-	NC_000001.11:g.33372333G>A	gnomAD
rs765072943	p.His97Gln	missense variant	-	NC_000001.11:g.33372331G>T	ExAC,TOPMed,gnomAD
rs372209652	p.Ala101Thr	missense variant	-	NC_000001.11:g.33372321C>T	ESP,ExAC,TOPMed,gnomAD
rs939357077	p.Ala101Val	missense variant	-	NC_000001.11:g.33372320G>A	TOPMed
rs1164860261	p.Gln104His	missense variant	-	NC_000001.11:g.33372310C>G	gnomAD
rs760492303	p.Val109Ile	missense variant	-	NC_000001.11:g.33372297C>T	ExAC,gnomAD
rs1461003029	p.Gln111Glu	missense variant	-	NC_000001.11:g.33372291G>C	TOPMed
rs373837300	p.Ser116Tyr	missense variant	-	NC_000001.11:g.33371081G>T	ESP,ExAC,TOPMed
rs753761423	p.Asn117Ser	missense variant	-	NC_000001.11:g.33371078T>C	ExAC,TOPMed,gnomAD
rs1202143045	p.Arg118Lys	missense variant	-	NC_000001.11:g.33371075C>T	TOPMed,gnomAD
rs1202143045	p.Arg118Thr	missense variant	-	NC_000001.11:g.33371075C>G	TOPMed,gnomAD
rs1361283752	p.Gln119Ter	stop gained	-	NC_000001.11:g.33371073G>A	gnomAD
NCI-TCGA novel	p.Ser121Gly	missense variant	-	NC_000001.11:g.33371067T>C	NCI-TCGA
rs755844280	p.Ser123Thr	missense variant	-	NC_000001.11:g.33371061A>T	ExAC,gnomAD
rs752545798	p.Asn126Tyr	missense variant	-	NC_000001.11:g.33371052T>A	ExAC,TOPMed,gnomAD
rs760110448	p.Ala129Val	missense variant	-	NC_000001.11:g.33371042G>A	ExAC,TOPMed,gnomAD
rs773707398	p.Ala129Thr	missense variant	-	NC_000001.11:g.33371043C>T	ExAC,gnomAD
rs773792371	p.Gln130Arg	missense variant	-	NC_000001.11:g.33371039T>C	ExAC,TOPMed,gnomAD
rs923826580	p.Ala131Val	missense variant	-	NC_000001.11:g.33371036G>A	gnomAD
rs923826580	p.Ala131Asp	missense variant	-	NC_000001.11:g.33371036G>T	gnomAD
rs370430442	p.Pro132Leu	missense variant	-	NC_000001.11:g.33371033G>A	ESP,ExAC,gnomAD
rs747306048	p.Ser137Leu	missense variant	-	NC_000001.11:g.33371018G>A	ExAC,TOPMed,gnomAD
rs1328518316	p.Ile138Thr	missense variant	-	NC_000001.11:g.33370584A>G	gnomAD
rs145063380	p.Asn139Ser	missense variant	-	NC_000001.11:g.33370581T>C	ESP,TOPMed
rs769016941	p.Asn139Asp	missense variant	-	NC_000001.11:g.33370582T>C	ExAC,gnomAD
rs1383699030	p.Ala142Val	missense variant	-	NC_000001.11:g.33370572G>A	gnomAD
rs41265897	p.Ala145Val	missense variant	-	NC_000001.11:g.33370563G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368308556	p.Ala145Thr	missense variant	-	NC_000001.11:g.33370564C>T	ESP,ExAC,TOPMed,gnomAD
rs1175209137	p.Ala146Val	missense variant	-	NC_000001.11:g.33370560G>A	gnomAD
rs779004256	p.Gln148His	missense variant	-	NC_000001.11:g.33370553C>A	ExAC,gnomAD
rs779004256	p.Gln148His	missense variant	-	NC_000001.11:g.33370553C>G	ExAC,gnomAD
rs745942992	p.Gln148Lys	missense variant	-	NC_000001.11:g.33370555G>T	ExAC,gnomAD
rs377675352	p.Leu149His	missense variant	-	NC_000001.11:g.33370551A>T	ESP,ExAC,TOPMed,gnomAD
rs769693579	p.Leu149Val	missense variant	-	NC_000001.11:g.33370552G>C	ExAC,TOPMed,gnomAD
rs754733612	p.Leu150Phe	missense variant	-	NC_000001.11:g.33370549G>A	ExAC,gnomAD
rs751327448	p.Asn151Lys	missense variant	-	NC_000001.11:g.33370544G>T	ExAC,gnomAD
rs1201944638	p.Arg152Gln	missense variant	-	NC_000001.11:g.33370542C>T	TOPMed,gnomAD
rs369513931	p.Gln154Lys	missense variant	-	NC_000001.11:g.33370537G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser155Ile	missense variant	-	NC_000001.11:g.33370533C>A	NCI-TCGA
rs761432411	p.Ser155Asn	missense variant	-	NC_000001.11:g.33370533C>T	ExAC,gnomAD
rs764520829	p.Val156Leu	missense variant	-	NC_000001.11:g.33370531C>G	ExAC,gnomAD
rs764520829	p.Val156Met	missense variant	-	NC_000001.11:g.33370531C>T	ExAC,gnomAD
rs761085676	p.Ser158Ala	missense variant	-	NC_000001.11:g.33370525A>C	ExAC,gnomAD
rs1408506441	p.Gly163Asp	missense variant	-	NC_000001.11:g.33370509C>T	TOPMed
rs767748794	p.Ala165Thr	missense variant	-	NC_000001.11:g.33370504C>T	ExAC,TOPMed,gnomAD
rs1461460647	p.Leu171Ser	missense variant	-	NC_000001.11:g.33370485A>G	gnomAD
rs774575736	p.Asn173Lys	missense variant	-	NC_000001.11:g.33370478G>C	ExAC,gnomAD
rs532970858	p.Asn173Asp	missense variant	-	NC_000001.11:g.33370480T>C	1000Genomes,ExAC,gnomAD
rs770954672	p.Thr174Met	missense variant	-	NC_000001.11:g.33370476G>A	ExAC,TOPMed,gnomAD
rs1222346541	p.Pro177Gln	missense variant	-	NC_000001.11:g.33370467G>T	TOPMed,gnomAD
rs1473100344	p.Ala178Val	missense variant	-	NC_000001.11:g.33370464G>A	TOPMed
rs1258457856	p.Gln185Lys	missense variant	-	NC_000001.11:g.33370444G>T	TOPMed
NCI-TCGA novel	p.Leu188Gln	missense variant	-	NC_000001.11:g.33370434A>T	NCI-TCGA
rs1337805435	p.Arg189Lys	missense variant	-	NC_000001.11:g.33370431C>T	TOPMed,gnomAD
rs1294610129	p.Met192Thr	missense variant	-	NC_000001.11:g.33370422A>G	TOPMed,gnomAD
rs1226149492	p.Leu193Phe	missense variant	-	NC_000001.11:g.33368622G>A	gnomAD
rs1365637731	p.Leu193Arg	missense variant	-	NC_000001.11:g.33368621A>C	TOPMed
COSM3419136	p.Phe195Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33368615A>G	NCI-TCGA Cosmic
rs550318031	p.Thr196Lys	missense variant	-	NC_000001.11:g.33368612G>T	1000Genomes,TOPMed,gnomAD
rs550318031	p.Thr196Met	missense variant	-	NC_000001.11:g.33368612G>A	1000Genomes,TOPMed,gnomAD
rs1304714550	p.Pro197Leu	missense variant	-	NC_000001.11:g.33368609G>A	gnomAD
rs61760981	p.Thr198Met	missense variant	-	NC_000001.11:g.33368606G>A	gnomAD
rs1402546540	p.Ala199Thr	missense variant	-	NC_000001.11:g.33368604C>T	gnomAD
rs1385685839	p.Val201Ile	missense variant	-	NC_000001.11:g.33368598C>T	gnomAD
NCI-TCGA novel	p.Ala202Thr	missense variant	-	NC_000001.11:g.33368595C>T	NCI-TCGA
rs774486203	p.Thr203Ala	missense variant	-	NC_000001.11:g.33368592T>C	ExAC,gnomAD
rs1431965795	p.Thr203Ile	missense variant	-	NC_000001.11:g.33368591G>A	gnomAD
COSM426121	p.Val204Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33368589C>G	NCI-TCGA Cosmic
rs1200562522	p.Val204Met	missense variant	-	NC_000001.11:g.33368589C>T	gnomAD
rs1245511253	p.Leu208Phe	missense variant	-	NC_000001.11:g.33368577G>A	gnomAD
rs1218492811	p.Leu208Arg	missense variant	-	NC_000001.11:g.33368576A>C	gnomAD
rs531870057	p.Gly209Ser	missense variant	-	NC_000001.11:g.33368574C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531870057	p.Gly209Arg	missense variant	-	NC_000001.11:g.33368574C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1326611914	p.Thr210Ile	missense variant	-	NC_000001.11:g.33368570G>A	gnomAD
rs1284997742	p.Gly211Asp	missense variant	-	NC_000001.11:g.33368567C>T	gnomAD
rs1004618854	p.Pro213Thr	missense variant	-	NC_000001.11:g.33368562G>T	TOPMed
rs1273019893	p.Ala214Val	missense variant	-	NC_000001.11:g.33368558G>A	gnomAD
rs888737353	p.Ala214Thr	missense variant	-	NC_000001.11:g.33368559C>T	TOPMed,gnomAD
rs763010320	p.Arg215Trp	missense variant	-	NC_000001.11:g.33368556G>A	ExAC,TOPMed,gnomAD
rs1327168452	p.Arg215Gln	missense variant	-	NC_000001.11:g.33368555C>T	TOPMed,gnomAD
rs1317702063	p.Pro216Thr	missense variant	-	NC_000001.11:g.33368553G>T	gnomAD
rs768611848	p.Thr218Ile	missense variant	-	NC_000001.11:g.33368546G>A	ExAC,TOPMed,gnomAD
rs768611848	p.Thr218Asn	missense variant	-	NC_000001.11:g.33368546G>T	ExAC,TOPMed,gnomAD
rs1222487705	p.Pro219His	missense variant	-	NC_000001.11:g.33368543G>T	TOPMed
rs1469627694	p.Pro219Ser	missense variant	-	NC_000001.11:g.33368544G>A	TOPMed,gnomAD
rs1469627694	p.Pro219Ala	missense variant	-	NC_000001.11:g.33368544G>C	TOPMed,gnomAD
rs958187507	p.Ala220Thr	missense variant	-	NC_000001.11:g.33368541C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala220ProPheSerTerUnk	frameshift	-	NC_000001.11:g.33368542G>-	NCI-TCGA
rs1172957597	p.Val222Ile	missense variant	-	NC_000001.11:g.33367428C>T	gnomAD
rs191815163	p.Gln223His	missense variant	-	NC_000001.11:g.33367423C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1391053769	p.Gln223Glu	missense variant	-	NC_000001.11:g.33367425G>C	TOPMed
rs753100768	p.Asn224Lys	missense variant	-	NC_000001.11:g.33367420G>T	ExAC,gnomAD
rs768013981	p.Thr226Ser	missense variant	-	NC_000001.11:g.33367416T>A	ExAC,TOPMed,gnomAD
rs768013981	p.Thr226Ala	missense variant	-	NC_000001.11:g.33367416T>C	ExAC,TOPMed,gnomAD
rs755274964	p.Thr226Ser	missense variant	-	NC_000001.11:g.33367415G>C	ExAC,gnomAD
rs942698358	p.Leu227Phe	missense variant	-	NC_000001.11:g.33367413G>A	TOPMed,gnomAD
rs942698358	p.Leu227Val	missense variant	-	NC_000001.11:g.33367413G>C	TOPMed,gnomAD
rs912594336	p.Arg228Gln	missense variant	-	NC_000001.11:g.33367409C>T	TOPMed,gnomAD
rs543761364	p.Arg228Ter	stop gained	-	NC_000001.11:g.33367410G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs986797722	p.Thr232Lys	missense variant	-	NC_000001.11:g.33367397G>T	TOPMed
rs1401840934	p.Pro233Ser	missense variant	-	NC_000001.11:g.33367395G>A	gnomAD
rs201647557	p.Ala234Val	missense variant	-	NC_000001.11:g.33367391G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763128463	p.Ser238Leu	missense variant	-	NC_000001.11:g.33367379G>A	ExAC,gnomAD
rs1361770546	p.Gly239Arg	missense variant	-	NC_000001.11:g.33367377C>G	gnomAD
rs376148208	p.Gly239Val	missense variant	-	NC_000001.11:g.33367376C>A	ESP,TOPMed,gnomAD
rs1300070282	p.Thr241Ile	missense variant	-	NC_000001.11:g.33367370G>A	gnomAD
rs1300070282	p.Thr241Asn	missense variant	-	NC_000001.11:g.33367370G>T	gnomAD
rs1443410320	p.Pro242Arg	missense variant	-	NC_000001.11:g.33367367G>C	gnomAD
rs1221447342	p.Pro242Ser	missense variant	-	NC_000001.11:g.33367368G>A	TOPMed
rs775225077	p.Thr243Ile	missense variant	-	NC_000001.11:g.33367364G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln244Ter	stop gained	-	NC_000001.11:g.33367362G>A	NCI-TCGA
NCI-TCGA novel	p.Pro245His	missense variant	-	NC_000001.11:g.33367358G>T	NCI-TCGA
rs1163639404	p.Pro248Ser	missense variant	-	NC_000001.11:g.33367350G>A	gnomAD
rs1044422595	p.Pro248Leu	missense variant	-	NC_000001.11:g.33367349G>A	gnomAD
rs372757555	p.Ser249Asn	missense variant	-	NC_000001.11:g.33367346C>T	ESP,ExAC,TOPMed
rs144272203	p.Ala251Val	missense variant	-	NC_000001.11:g.33367340G>A	ESP,ExAC,TOPMed,gnomAD
rs561418548	p.Leu252Val	missense variant	-	NC_000001.11:g.33367338G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs561418548	p.Leu252Met	missense variant	-	NC_000001.11:g.33367338G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs10914692	p.Pro254Ala	missense variant	-	NC_000001.11:g.33367332G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10914692	p.Pro254Ser	missense variant	-	NC_000001.11:g.33367332G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10914692	p.Pro254Ser	missense variant	-	NC_000001.11:g.33367332G>A	UniProt,dbSNP
VAR_051276	p.Pro254Ser	missense variant	-	NC_000001.11:g.33367332G>A	UniProt
rs202020305	p.Thr255Met	missense variant	-	NC_000001.11:g.33367328G>A	ExAC,TOPMed,gnomAD
rs369290284	p.Pro256Leu	missense variant	-	NC_000001.11:g.33367325G>A	ESP,ExAC,TOPMed,gnomAD
rs940831988	p.Pro256Ser	missense variant	-	NC_000001.11:g.33367326G>A	TOPMed
rs765504615	p.Gly258Val	missense variant	-	NC_000001.11:g.33367319C>A	ExAC,gnomAD
rs750575593	p.Gly258Ser	missense variant	-	NC_000001.11:g.33367320C>T	ExAC,gnomAD
rs765504615	p.Gly258Asp	missense variant	-	NC_000001.11:g.33367319C>T	ExAC,gnomAD
rs761744207	p.Ser259Gly	missense variant	-	NC_000001.11:g.33367317T>C	ExAC,gnomAD
rs141924903	p.Gln260Arg	missense variant	-	NC_000001.11:g.33367313T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro261Leu	missense variant	-	NC_000001.11:g.33367310G>A	NCI-TCGA
NCI-TCGA novel	p.Pro263Ser	missense variant	-	NC_000001.11:g.33367305G>A	NCI-TCGA
rs767527812	p.Thr264Ala	missense variant	-	NC_000001.11:g.33367302T>C	ExAC,gnomAD
rs1444801339	p.Ala266Thr	missense variant	-	NC_000001.11:g.33367296C>T	TOPMed
rs1456981308	p.Ser268Arg	missense variant	-	NC_000001.11:g.33367288G>T	TOPMed,gnomAD
rs1293408491	p.Ser268Gly	missense variant	-	NC_000001.11:g.33367290T>C	gnomAD
rs1238705570	p.Ser268Asn	missense variant	-	NC_000001.11:g.33367289C>T	TOPMed
rs1261580064	p.Thr271Ser	missense variant	-	NC_000001.11:g.33367280G>C	gnomAD
rs1436600897	p.Thr271Ala	missense variant	-	NC_000001.11:g.33367281T>C	TOPMed
rs774448648	p.Ala274Val	missense variant	-	NC_000001.11:g.33367271G>A	ExAC,gnomAD
rs200661676	p.Ala274Thr	missense variant	-	NC_000001.11:g.33367272C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770591243	p.Ser275Phe	missense variant	-	NC_000001.11:g.33367268G>A	ExAC,gnomAD
rs772681089	p.Pro276Leu	missense variant	-	NC_000001.11:g.33367265G>A	ExAC,TOPMed,gnomAD
COSM5177044	p.Ala277GlnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.33367264A>-	NCI-TCGA Cosmic
rs747609035	p.Ala277Thr	missense variant	-	NC_000001.11:g.33367263C>T	ExAC,TOPMed,gnomAD
rs1209103487	p.Gly278Ser	missense variant	-	NC_000001.11:g.33367260C>T	gnomAD
COSM5053415	p.Lys280Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33367253T>C	NCI-TCGA Cosmic
rs1203338020	p.Ile283Arg	missense variant	-	NC_000001.11:g.33367244A>C	gnomAD
rs1262564089	p.Ala284Val	missense variant	-	NC_000001.11:g.33367241G>A	gnomAD
rs780722222	p.Asp285Glu	missense variant	-	NC_000001.11:g.33367237G>T	ExAC,gnomAD
rs1216848412	p.Asp285Gly	missense variant	-	NC_000001.11:g.33367238T>C	gnomAD
rs1021348107	p.Ser286Asn	missense variant	-	NC_000001.11:g.33367235C>T	TOPMed,gnomAD
rs1225761147	p.Val287Glu	missense variant	-	NC_000001.11:g.33367232A>T	gnomAD
rs374691546	p.Met288Ile	missense variant	-	NC_000001.11:g.33367228C>T	ESP,ExAC,gnomAD
rs267598559	p.Pro290Thr	missense variant	-	NC_000001.11:g.33367224G>T	ExAC,gnomAD
rs267598559	p.Pro290Ser	missense variant	-	NC_000001.11:g.33367224G>A	ExAC,gnomAD
rs1385593334	p.Lys293Ile	missense variant	-	NC_000001.11:g.33367214T>A	gnomAD
rs988642007	p.Gly296Val	missense variant	-	NC_000001.11:g.33367205C>A	TOPMed
rs1364954396	p.Asn297Ser	missense variant	-	NC_000001.11:g.33367202T>C	gnomAD
rs750884230	p.Ser298Arg	missense variant	-	NC_000001.11:g.33367200T>G	-
rs137976642	p.Ser299Arg	missense variant	-	NC_000001.11:g.33367197T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758627496	p.Val300Met	missense variant	-	NC_000001.11:g.33367194C>T	ExAC,gnomAD
rs1387490265	p.Val300Ala	missense variant	-	NC_000001.11:g.33367193A>G	gnomAD
NCI-TCGA novel	p.Pro301Ser	missense variant	-	NC_000001.11:g.33367191G>A	NCI-TCGA
NCI-TCGA novel	p.Gly302Arg	missense variant	-	NC_000001.11:g.33367188C>T	NCI-TCGA
rs778992382	p.Met304Ile	missense variant	-	NC_000001.11:g.33367180C>T	ExAC,TOPMed,gnomAD
rs141081946	p.Met304Thr	missense variant	-	NC_000001.11:g.33367181A>G	ESP,ExAC,TOPMed,gnomAD
COSM269877	p.Gly306Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33367175C>T	NCI-TCGA Cosmic
rs765961408	p.Arg307Gln	missense variant	-	NC_000001.11:g.33367172C>T	ExAC,TOPMed,gnomAD
rs757536681	p.Arg307Trp	missense variant	-	NC_000001.11:g.33367173G>A	ExAC,TOPMed,gnomAD
rs150980242	p.Leu310Val	missense variant	-	NC_000001.11:g.33367164G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser311Arg	missense variant	-	NC_000001.11:g.33367161T>G	NCI-TCGA
rs764861698	p.Arg312Trp	missense variant	-	NC_000001.11:g.33367158G>A	ExAC,TOPMed,gnomAD
rs764861698	p.Arg312Gly	missense variant	-	NC_000001.11:g.33367158G>C	ExAC,TOPMed,gnomAD
rs555828655	p.Arg312Gln	missense variant	-	NC_000001.11:g.33367157C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs41265895	p.Thr313Met	missense variant	-	NC_000001.11:g.33367154G>A	1000Genomes,ExAC,gnomAD
rs776559838	p.Pro315Ser	missense variant	-	NC_000001.11:g.33367149G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala316Val	missense variant	-	NC_000001.11:g.33367145G>A	NCI-TCGA
rs1222156602	p.Ala316Gly	missense variant	-	NC_000001.11:g.33367145G>C	TOPMed
rs1363750051	p.Ala319Ser	missense variant	-	NC_000001.11:g.33367137C>A	gnomAD
rs768114479	p.Ala319Gly	missense variant	-	NC_000001.11:g.33367136G>C	ExAC,gnomAD
NCI-TCGA novel	p.His320Tyr	missense variant	-	NC_000001.11:g.33367134G>A	NCI-TCGA
rs746531009	p.His320Pro	missense variant	-	NC_000001.11:g.33367133T>G	ExAC,gnomAD
rs376469270	p.Pro321His	missense variant	-	NC_000001.11:g.33367130G>T	ESP,TOPMed,gnomAD
rs1171755913	p.Leu322Val	missense variant	-	NC_000001.11:g.33367128G>C	gnomAD
rs1171755913	p.Leu322Phe	missense variant	-	NC_000001.11:g.33367128G>A	gnomAD
NCI-TCGA novel	p.Ile323Thr	missense variant	-	NC_000001.11:g.33367124A>G	NCI-TCGA
rs757581155	p.Ile323Val	missense variant	-	NC_000001.11:g.33367125T>C	ExAC,gnomAD
rs757581155	p.Ile323Leu	missense variant	-	NC_000001.11:g.33367125T>G	ExAC,gnomAD
rs1224108839	p.Ala326Val	missense variant	-	NC_000001.11:g.33355253G>A	gnomAD
rs1283240332	p.Tyr327His	missense variant	-	NC_000001.11:g.33355251A>G	gnomAD
rs1337372739	p.Ala328Val	missense variant	-	NC_000001.11:g.33355247G>A	gnomAD
rs1386320158	p.Gln331Ter	stop gained	-	NC_000001.11:g.33355239G>A	gnomAD
rs1409182201	p.His333Arg	missense variant	-	NC_000001.11:g.33355232T>C	gnomAD
rs1368669368	p.Gln334Ter	stop gained	-	NC_000001.11:g.33355230G>A	gnomAD
rs911993776	p.Leu335Arg	missense variant	-	NC_000001.11:g.33355226A>C	TOPMed,gnomAD
rs752311590	p.Leu336Phe	missense variant	-	NC_000001.11:g.33355224G>A	ExAC,gnomAD
rs752311590	p.Leu336Ile	missense variant	-	NC_000001.11:g.33355224G>T	ExAC,gnomAD
rs1183336305	p.Ser340Phe	missense variant	-	NC_000001.11:g.33355211G>A	gnomAD
rs1053229985	p.Ser341Leu	missense variant	-	NC_000001.11:g.33355208G>A	TOPMed,gnomAD
rs1181870496	p.His343Tyr	missense variant	-	NC_000001.11:g.33355203G>A	TOPMed,gnomAD
COSM908428	p.Gln347His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33355189T>A	NCI-TCGA Cosmic
rs1014508515	p.Gln353Pro	missense variant	-	NC_000001.11:g.33355172T>G	TOPMed
rs1005965573	p.Pro356Ser	missense variant	-	NC_000001.11:g.33355164G>A	TOPMed
rs763404025	p.Gln357Lys	missense variant	-	NC_000001.11:g.33355161G>T	ExAC,TOPMed,gnomAD
rs763404025	p.Gln357Glu	missense variant	-	NC_000001.11:g.33355161G>C	ExAC,TOPMed,gnomAD
rs1352358504	p.Gln359His	missense variant	-	NC_000001.11:g.33355153C>A	gnomAD
rs934728464	p.Gln360Pro	missense variant	-	NC_000001.11:g.33355151T>G	TOPMed,gnomAD
rs1308168103	p.Gln360His	missense variant	-	NC_000001.11:g.33355150C>G	TOPMed
rs138345405	p.Pro361Leu	missense variant	-	NC_000001.11:g.33355148G>A	ESP,ExAC,TOPMed,gnomAD
rs138345405	p.Pro361Gln	missense variant	-	NC_000001.11:g.33355148G>T	ESP,ExAC,TOPMed,gnomAD
rs1196489668	p.Pro362Ser	missense variant	-	NC_000001.11:g.33355146G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro362Leu	missense variant	-	NC_000001.11:g.33355145G>A	NCI-TCGA
rs781302456	p.Pro362Arg	missense variant	-	NC_000001.11:g.33355145G>C	ExAC
rs1348336970	p.Pro363Leu	missense variant	-	NC_000001.11:g.33355142G>A	gnomAD
rs537365784	p.Gln365His	missense variant	-	NC_000001.11:g.33355135C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1330654767	p.Ser366Pro	missense variant	-	NC_000001.11:g.33355134A>G	gnomAD
rs146515869	p.Arg367Pro	missense variant	-	NC_000001.11:g.33355130C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146515869	p.Arg367Gln	missense variant	-	NC_000001.11:g.33355130C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1402700291	p.Arg367Trp	missense variant	-	NC_000001.11:g.33355131G>A	gnomAD
rs375331961	p.Pro368Leu	missense variant	-	NC_000001.11:g.33355127G>A	ESP,TOPMed,gnomAD
rs753601535	p.Val369Leu	missense variant	-	NC_000001.11:g.33355125C>G	ExAC,TOPMed,gnomAD
rs753601535	p.Val369Met	missense variant	-	NC_000001.11:g.33355125C>T	ExAC,TOPMed,gnomAD
rs1431898843	p.Leu370Pro	missense variant	-	NC_000001.11:g.33355121A>G	gnomAD
rs777492781	p.His375Tyr	missense variant	-	NC_000001.11:g.33355107G>A	ExAC,gnomAD
rs755931133	p.His375Gln	missense variant	-	NC_000001.11:g.33355105G>T	ExAC,gnomAD
rs1465824425	p.Gln377Lys	missense variant	-	NC_000001.11:g.33355101G>T	gnomAD
rs1248277370	p.Leu378His	missense variant	-	NC_000001.11:g.33355097A>T	gnomAD
rs767085287	p.Ala379Thr	missense variant	-	NC_000001.11:g.33355095C>T	ExAC,gnomAD
rs759072376	p.Ser382Cys	missense variant	-	NC_000001.11:g.33355085G>C	ExAC,gnomAD
rs751096480	p.Pro383Ser	missense variant	-	NC_000001.11:g.33355083G>A	ExAC,gnomAD
rs1268137531	p.Pro383Leu	missense variant	-	NC_000001.11:g.33355082G>A	TOPMed
rs1344176631	p.Ser384Thr	missense variant	-	NC_000001.11:g.33355079C>G	gnomAD
rs763601829	p.Val385Met	missense variant	-	NC_000001.11:g.33355077C>T	ExAC,gnomAD
rs770244880	p.Ala386Thr	missense variant	-	NC_000001.11:g.33355074C>T	ExAC,TOPMed,gnomAD
rs770244880	p.Ala386Ser	missense variant	-	NC_000001.11:g.33355074C>A	ExAC,TOPMed,gnomAD
rs1320220099	p.Ala386Val	missense variant	-	NC_000001.11:g.33355073G>A	gnomAD
rs1408825235	p.His394Tyr	missense variant	-	NC_000001.11:g.33355050G>A	gnomAD
rs1310907180	p.Ala395Thr	missense variant	-	NC_000001.11:g.33355047C>T	gnomAD
rs768822816	p.Met396Val	missense variant	-	NC_000001.11:g.33355044T>C	ExAC,gnomAD
rs768822816	p.Met396Leu	missense variant	-	NC_000001.11:g.33355044T>G	ExAC,gnomAD
rs146954923	p.Pro400Leu	missense variant	-	NC_000001.11:g.33355031G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777688734	p.Pro403Ser	missense variant	-	NC_000001.11:g.33355023G>A	ExAC,gnomAD
rs747950368	p.Ala404Pro	missense variant	-	NC_000001.11:g.33355020C>G	ExAC,gnomAD
rs747950368	p.Ala404Thr	missense variant	-	NC_000001.11:g.33355020C>T	ExAC,gnomAD
COSM464464	p.Pro406Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33355013G>T	NCI-TCGA Cosmic
rs1331250531	p.Leu407Pro	missense variant	-	NC_000001.11:g.33355010A>G	TOPMed
rs950520119	p.Leu407Phe	missense variant	-	NC_000001.11:g.33355011G>A	TOPMed,gnomAD
rs950520119	p.Leu407Val	missense variant	-	NC_000001.11:g.33355011G>C	TOPMed,gnomAD
rs1324872429	p.Gln408His	missense variant	-	NC_000001.11:g.33355006C>G	TOPMed
rs754624598	p.Leu414Met	missense variant	-	NC_000001.11:g.33354990G>T	ExAC,TOPMed,gnomAD
rs1296938100	p.His415Gln	missense variant	-	NC_000001.11:g.33354985G>C	TOPMed,gnomAD
rs1298009693	p.Gly418Asp	missense variant	-	NC_000001.11:g.33354977C>T	TOPMed
rs765939608	p.Gly419Ser	missense variant	-	NC_000001.11:g.33354975C>T	ExAC,TOPMed,gnomAD
rs1477782782	p.Ser420Arg	missense variant	-	NC_000001.11:g.33354972T>G	TOPMed
NCI-TCGA novel	p.Cys423Tyr	missense variant	-	NC_000001.11:g.33354962C>T	NCI-TCGA
rs1357723708	p.Pro426Ala	missense variant	-	NC_000001.11:g.33354954G>C	TOPMed,gnomAD
rs199932964	p.Thr427Ile	missense variant	-	NC_000001.11:g.33354950G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Thr427Lys	missense variant	-	NC_000001.11:g.33354950G>T	NCI-TCGA
rs1370685763	p.Pro428Arg	missense variant	-	NC_000001.11:g.33354947G>C	TOPMed,gnomAD
rs1370685763	p.Pro428Leu	missense variant	-	NC_000001.11:g.33354947G>A	TOPMed,gnomAD
rs1447087342	p.Gly431Glu	missense variant	-	NC_000001.11:g.33354938C>T	gnomAD
NCI-TCGA novel	p.Gly435Glu	missense variant	-	NC_000001.11:g.33354926C>T	NCI-TCGA
rs202093854	p.Glu438Lys	missense variant	-	NC_000001.11:g.33354918C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764348786	p.Glu438Gly	missense variant	-	NC_000001.11:g.33354917T>C	ExAC,TOPMed,gnomAD
rs1207269080	p.Gly439Ala	missense variant	-	NC_000001.11:g.33354914C>G	gnomAD
rs146737581	p.Val440Met	missense variant	-	NC_000001.11:g.33354912C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146737581	p.Val440Leu	missense variant	-	NC_000001.11:g.33354912C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769686110	p.Pro441Ser	missense variant	-	NC_000001.11:g.33354909G>A	ExAC,gnomAD
rs769686110	p.Pro441Thr	missense variant	-	NC_000001.11:g.33354909G>T	ExAC,gnomAD
rs1276130594	p.Thr443Pro	missense variant	-	NC_000001.11:g.33354903T>G	TOPMed
rs1227959015	p.Pro444Ser	missense variant	-	NC_000001.11:g.33354900G>A	gnomAD
rs1224566737	p.Gln445His	missense variant	-	NC_000001.11:g.33354895T>G	TOPMed
rs780516656	p.Arg446Leu	missense variant	-	NC_000001.11:g.33354893C>A	TOPMed,gnomAD
rs780516656	p.Arg446His	missense variant	-	NC_000001.11:g.33354893C>T	TOPMed,gnomAD
rs754823498	p.Arg446Cys	missense variant	-	NC_000001.11:g.33354894G>A	ExAC,TOPMed,gnomAD
rs1356933076	p.Phe448Leu	missense variant	-	NC_000001.11:g.33354886G>C	gnomAD
COSM908427	p.Ala453Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33354873C>T	NCI-TCGA Cosmic
rs139804561	p.Gln457Glu	missense variant	-	NC_000001.11:g.33354861G>C	ESP,ExAC,TOPMed,gnomAD
rs139804561	p.Gln457Lys	missense variant	-	NC_000001.11:g.33354861G>T	ESP,ExAC,TOPMed,gnomAD
rs1165124399	p.Gln459Pro	missense variant	-	NC_000001.11:g.33354854T>G	gnomAD
rs1351049395	p.Gln459Ter	stop gained	-	NC_000001.11:g.33354855G>A	gnomAD
rs1404372420	p.Pro463Arg	missense variant	-	NC_000001.11:g.33354842G>C	gnomAD
rs1348183276	p.Pro464Thr	missense variant	-	NC_000001.11:g.33354566G>T	TOPMed
rs1236121748	p.Pro464His	missense variant	-	NC_000001.11:g.33354565G>T	gnomAD
rs1236121748	p.Pro464Arg	missense variant	-	NC_000001.11:g.33354565G>C	gnomAD
rs961964682	p.Gln465His	missense variant	-	NC_000001.11:g.33354561C>G	gnomAD
COSM1341908	p.Gln466His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33354558C>A	NCI-TCGA Cosmic
rs754228118	p.Gln466Glu	missense variant	-	NC_000001.11:g.33354560G>C	ExAC,gnomAD
rs964368741	p.Val468Ile	missense variant	-	NC_000001.11:g.33354554C>T	TOPMed
rs1368067191	p.Pro469His	missense variant	-	NC_000001.11:g.33354550G>T	TOPMed,gnomAD
rs142759750	p.Asp471Asn	missense variant	-	NC_000001.11:g.33354545C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1435350978	p.Lys473Gln	missense variant	-	NC_000001.11:g.33354539T>G	gnomAD
rs1286864575	p.Glu474Gly	missense variant	-	NC_000001.11:g.33354535T>C	gnomAD
rs756452509	p.Glu474Lys	missense variant	-	NC_000001.11:g.33354536C>T	ExAC,gnomAD
rs1378153704	p.Val475Gly	missense variant	-	NC_000001.11:g.33354532A>C	gnomAD
rs12026290	p.Val475Met	missense variant	-	NC_000001.11:g.33354533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12026290	p.Val475Met	missense variant	-	NC_000001.11:g.33354533C>T	UniProt,dbSNP
VAR_051277	p.Val475Met	missense variant	-	NC_000001.11:g.33354533C>T	UniProt
rs767694862	p.Pro477Ala	missense variant	-	NC_000001.11:g.33354527G>C	ExAC,TOPMed,gnomAD
rs1431514961	p.Glu479Lys	missense variant	-	NC_000001.11:g.33354521C>T	gnomAD
rs759803355	p.Ser481Thr	missense variant	-	NC_000001.11:g.33354514C>G	ExAC,gnomAD
rs1189517668	p.Val482Met	missense variant	-	NC_000001.11:g.33354512C>T	gnomAD
rs1246380435	p.Glu484Gln	missense variant	-	NC_000001.11:g.33354506C>G	gnomAD
rs766329171	p.Thr485Met	missense variant	-	NC_000001.11:g.33354502G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr485TyrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.33354503_33354504insA	NCI-TCGA
rs370173676	p.Arg486Gln	missense variant	-	NC_000001.11:g.33354499C>T	ESP,ExAC,TOPMed,gnomAD
rs776377447	p.Arg486Trp	missense variant	-	NC_000001.11:g.33354500G>A	ExAC,TOPMed,gnomAD
rs370173676	p.Arg486Pro	missense variant	-	NC_000001.11:g.33354499C>G	ESP,ExAC,TOPMed,gnomAD
rs1299155576	p.Pro489Ser	missense variant	-	NC_000001.11:g.33354491G>A	TOPMed,gnomAD
rs771832823	p.Pro489Leu	missense variant	-	NC_000001.11:g.33354490G>A	ExAC,gnomAD
rs1365668245	p.Pro491Leu	missense variant	-	NC_000001.11:g.33354484G>A	TOPMed
rs770286543	p.His492Tyr	missense variant	-	NC_000001.11:g.33354482G>A	ExAC,gnomAD
rs373301304	p.His492Gln	missense variant	-	NC_000001.11:g.33354480A>T	ESP,ExAC,gnomAD
rs778134188	p.Gln494Ter	stop gained	-	NC_000001.11:g.33354476G>A	ExAC,gnomAD
rs149267683	p.Ala495Asp	missense variant	-	NC_000001.11:g.33354472G>T	ESP,ExAC,TOPMed,gnomAD
rs756652680	p.Ala495Thr	missense variant	-	NC_000001.11:g.33354473C>T	ExAC,gnomAD
rs781485920	p.Ile496Thr	missense variant	-	NC_000001.11:g.33354469A>G	ExAC,TOPMed
rs755364983	p.Val497Ala	missense variant	-	NC_000001.11:g.33354466A>G	ExAC,gnomAD
rs766639176	p.Gly503Ala	missense variant	-	NC_000001.11:g.33354448C>G	ExAC,gnomAD
rs1189801248	p.Gly503Ser	missense variant	-	NC_000001.11:g.33354449C>T	TOPMed,gnomAD
rs766639176	p.Gly503Asp	missense variant	-	NC_000001.11:g.33354448C>T	ExAC,gnomAD
rs1199298203	p.Pro507Leu	missense variant	-	NC_000001.11:g.33354436G>A	gnomAD
rs150120585	p.Thr508Arg	missense variant	-	NC_000001.11:g.33354433G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150120585	p.Thr508Met	missense variant	-	NC_000001.11:g.33354433G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140452537	p.Ser509Thr	missense variant	-	NC_000001.11:g.33354430C>G	ESP,ExAC,TOPMed,gnomAD
rs773858664	p.Ile512Thr	missense variant	-	NC_000001.11:g.33354421A>G	ExAC,TOPMed,gnomAD
rs1001084085	p.Ile512Val	missense variant	-	NC_000001.11:g.33354422T>C	TOPMed,gnomAD
rs143148806	p.Pro514Leu	missense variant	-	NC_000001.11:g.33354415G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770679575	p.Pro514Ser	missense variant	-	NC_000001.11:g.33354416G>A	ExAC,gnomAD
rs140045583	p.Pro516Ser	missense variant	-	NC_000001.11:g.33354410G>A	1000Genomes,gnomAD
rs748613999	p.Ala517Val	missense variant	-	NC_000001.11:g.33354406G>A	ExAC,gnomAD
rs145232419	p.Ala517Ser	missense variant	-	NC_000001.11:g.33354407C>A	ESP,ExAC,TOPMed,gnomAD
rs781666432	p.His518Tyr	missense variant	-	NC_000001.11:g.33354404G>A	ExAC
rs948174580	p.Glu519Lys	missense variant	-	NC_000001.11:g.33354401C>T	TOPMed,gnomAD
rs772882863	p.Glu519Asp	missense variant	-	NC_000001.11:g.33334291C>G	ExAC,gnomAD
rs1366239481	p.Gly521Glu	missense variant	-	NC_000001.11:g.33334286C>T	gnomAD
rs769226746	p.Gly523Val	missense variant	-	NC_000001.11:g.33334280C>A	ExAC,TOPMed,gnomAD
rs1297067937	p.Gly523Ser	missense variant	-	NC_000001.11:g.33334281C>T	gnomAD
rs144906275	p.Ile524Thr	missense variant	-	NC_000001.11:g.33334277A>G	ESP,ExAC,gnomAD
rs1414377905	p.His526Gln	missense variant	-	NC_000001.11:g.33334270A>T	gnomAD
rs1395542140	p.His526Asp	missense variant	-	NC_000001.11:g.33334272G>C	TOPMed
rs372578094	p.Thr529Ile	missense variant	-	NC_000001.11:g.33334262G>A	ESP,ExAC,TOPMed,gnomAD
rs375446225	p.Asp530Asn	missense variant	-	NC_000001.11:g.33334260C>T	ESP,ExAC,TOPMed,gnomAD
rs147330538	p.Leu531Phe	missense variant	-	NC_000001.11:g.33334257G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758715305	p.Ser533Ile	missense variant	-	NC_000001.11:g.33334250C>A	ExAC,TOPMed,gnomAD
rs779285846	p.Gly535Ser	missense variant	-	NC_000001.11:g.33334245C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met536Ile	missense variant	-	NC_000001.11:g.33334240C>T	NCI-TCGA
rs754988377	p.Gly541Arg	missense variant	-	NC_000001.11:g.33334227C>T	ExAC,TOPMed,gnomAD
rs1254561651	p.Asn542Thr	missense variant	-	NC_000001.11:g.33334223T>G	TOPMed
rs538214036	p.Asn542Lys	missense variant	-	NC_000001.11:g.33334222G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs538214036	p.Asn542Lys	missense variant	-	NC_000001.11:g.33334222G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1272648177	p.Ser543Pro	missense variant	-	NC_000001.11:g.33334221A>G	gnomAD
rs1381856996	p.Ser545Tyr	missense variant	-	NC_000001.11:g.33334214G>T	TOPMed,gnomAD
rs1284379555	p.Ser546Thr	missense variant	-	NC_000001.11:g.33334211C>G	TOPMed
rs990272636	p.Ile547Val	missense variant	-	NC_000001.11:g.33334209T>C	TOPMed,gnomAD
rs1447704558	p.Ile547Thr	missense variant	-	NC_000001.11:g.33334208A>G	TOPMed,gnomAD
rs1372163858	p.Ala548Val	missense variant	-	NC_000001.11:g.33334205G>A	TOPMed
rs115905637	p.Ala548Thr	missense variant	-	NC_000001.11:g.33334206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764928189	p.Gly549Ser	missense variant	-	NC_000001.11:g.33334203C>T	ExAC,gnomAD
rs372267280	p.Thr550Ile	missense variant	-	NC_000001.11:g.33334199G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Pro552Arg	missense variant	-	NC_000001.11:g.33334193G>C	NCI-TCGA
COSM6126587	p.Asn557Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33334177A>T	NCI-TCGA Cosmic
rs1225756518	p.Ala562Thr	missense variant	-	NC_000001.11:g.33334164C>T	gnomAD
rs761307929	p.Ile563Leu	missense variant	-	NC_000001.11:g.33334161T>G	ExAC,gnomAD
rs776160542	p.Ile563Thr	missense variant	-	NC_000001.11:g.33334160A>G	ExAC,TOPMed,gnomAD
rs761198066	p.Val564Leu	missense variant	-	NC_000001.11:g.33334158C>A	ExAC,gnomAD
rs1184251596	p.Thr570Met	missense variant	-	NC_000001.11:g.33334139G>A	gnomAD
NCI-TCGA novel	p.Ile573Met	missense variant	-	NC_000001.11:g.33334129G>C	NCI-TCGA
COSM4031593	p.Glu574Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33334126T>G	NCI-TCGA Cosmic
rs980106149	p.Glu574Lys	missense variant	-	NC_000001.11:g.33334128C>T	TOPMed
NCI-TCGA novel	p.Phe576Ser	missense variant	-	NC_000001.11:g.33334121A>G	NCI-TCGA
NCI-TCGA novel	p.Ala582Glu	missense variant	-	NC_000001.11:g.33334103G>T	NCI-TCGA
NCI-TCGA novel	p.Ala582GlyPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.33334103_33334104insC	NCI-TCGA
rs1172925816	p.Ala582Val	missense variant	-	NC_000001.11:g.33334103G>A	TOPMed
rs779269503	p.Pro584Ala	missense variant	-	NC_000001.11:g.33334098G>C	ExAC,gnomAD
rs771315460	p.Pro586Leu	missense variant	-	NC_000001.11:g.33334091G>A	ExAC,TOPMed,gnomAD
rs1382573217	p.Arg589Cys	missense variant	-	NC_000001.11:g.33332398G>A	TOPMed,gnomAD
rs368044247	p.Arg589His	missense variant	-	NC_000001.11:g.33332397C>T	1000Genomes,ESP,ExAC,gnomAD
rs773468717	p.Asn596Ser	missense variant	-	NC_000001.11:g.33332376T>C	ExAC,gnomAD
rs776624702	p.Gln603His	missense variant	-	NC_000001.11:g.33332354C>G	ExAC,gnomAD
rs745769042	p.Gly604Ala	missense variant	-	NC_000001.11:g.33332352C>G	ExAC,gnomAD
rs745769042	p.Gly604Glu	missense variant	-	NC_000001.11:g.33332352C>T	ExAC,gnomAD
COSM1341907	p.Phe605LeuPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.33332348_33332349insAACCC	NCI-TCGA Cosmic
rs1185714114	p.Glu608Lys	missense variant	-	NC_000001.11:g.33332341C>T	TOPMed
rs1209541400	p.Lys609Ile	missense variant	-	NC_000001.11:g.33332337T>A	gnomAD
rs777446850	p.Leu610Phe	missense variant	-	NC_000001.11:g.33332335G>A	ExAC,gnomAD
rs755767833	p.Pro611Leu	missense variant	-	NC_000001.11:g.33332331G>A	ExAC,gnomAD
rs755767833	p.Pro611Arg	missense variant	-	NC_000001.11:g.33332331G>C	ExAC,gnomAD
rs1227691467	p.Asp614Tyr	missense variant	-	NC_000001.11:g.33332323C>A	TOPMed,gnomAD
rs752414303	p.Thr616Ile	missense variant	-	NC_000001.11:g.33332316G>A	ExAC,gnomAD
COSM1473881	p.Ser621Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33332301G>A	NCI-TCGA Cosmic
rs767049572	p.Pro626Ser	missense variant	-	NC_000001.11:g.33332287G>A	ExAC,TOPMed,gnomAD
rs1432948041	p.Tyr627Cys	missense variant	-	NC_000001.11:g.33332283T>C	gnomAD
rs1215174266	p.Lys632Arg	missense variant	-	NC_000001.11:g.33331456T>C	gnomAD
rs1468794896	p.Glu634Asp	missense variant	-	NC_000001.11:g.33331449C>A	gnomAD
rs775592218	p.Gly635Asp	missense variant	-	NC_000001.11:g.33331447C>T	ExAC,gnomAD
rs1272277625	p.Gly635Ser	missense variant	-	NC_000001.11:g.33331448C>T	gnomAD
COSM3865354	p.Pro637Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331442G>A	NCI-TCGA Cosmic
COSM4402472	p.Pro637Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331441G>A	NCI-TCGA Cosmic
rs1331166219	p.Leu640Phe	missense variant	-	NC_000001.11:g.33331433G>A	gnomAD
COSM3804991	p.Glu643Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331423T>G	NCI-TCGA Cosmic
COSM3804993	p.Glu643Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331424C>T	NCI-TCGA Cosmic
COSM4396651	p.Leu644Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331420A>C	NCI-TCGA Cosmic
rs145272571	p.Leu644Phe	missense variant	-	NC_000001.11:g.33331421G>A	ESP,ExAC,TOPMed,gnomAD
rs762757266	p.Arg647Gln	missense variant	-	NC_000001.11:g.33331411C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp649Glu	missense variant	-	NC_000001.11:g.33331404G>T	NCI-TCGA
rs773204156	p.Phe650Val	missense variant	-	NC_000001.11:g.33331403A>C	ExAC,gnomAD
rs769415894	p.Ala651Ser	missense variant	-	NC_000001.11:g.33331400C>A	ExAC,TOPMed,gnomAD
rs138740026	p.Tyr652Cys	missense variant	-	NC_000001.11:g.33331396T>C	ESP,ExAC,TOPMed,gnomAD
rs1324338884	p.Arg656His	missense variant	-	NC_000001.11:g.33331384C>T	gnomAD
rs1207612057	p.Arg656Cys	missense variant	-	NC_000001.11:g.33331385G>A	TOPMed
rs1459113984	p.Lys658Arg	missense variant	-	NC_000001.11:g.33331378T>C	gnomAD
NCI-TCGA novel	p.Arg659Cys	missense variant	-	NC_000001.11:g.33331376G>A	NCI-TCGA
rs780986416	p.Arg659His	missense variant	-	NC_000001.11:g.33331375C>T	ExAC,gnomAD
rs1311223680	p.Ser662Thr	missense variant	-	NC_000001.11:g.33331367A>T	TOPMed
NCI-TCGA novel	p.Ala664Thr	missense variant	-	NC_000001.11:g.33331361C>T	NCI-TCGA
NCI-TCGA novel	p.Cys665Ser	missense variant	-	NC_000001.11:g.33331358A>T	NCI-TCGA
rs1361547906	p.Arg668Gly	missense variant	-	NC_000001.11:g.33331349T>C	gnomAD
COSM1473880	p.Val671Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33330205C>A	NCI-TCGA Cosmic
rs745443991	p.Arg676Trp	missense variant	-	NC_000001.11:g.33330190G>A	ExAC,TOPMed
NCI-TCGA novel	p.Val677Met	missense variant	-	NC_000001.11:g.33330187C>T	NCI-TCGA
rs201259039	p.His681Gln	missense variant	-	NC_000001.11:g.33330173G>T	1000Genomes,ExAC,TOPMed
rs1363155547	p.Arg684Gly	missense variant	-	NC_000001.11:g.33330166G>C	gnomAD
rs201777764	p.Arg684Gln	missense variant	-	NC_000001.11:g.33330165C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756472581	p.Lys686Asn	missense variant	-	NC_000001.11:g.33330158C>G	ExAC,gnomAD
rs545840185	p.Lys689Thr	missense variant	-	NC_000001.11:g.33330150T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala692Asp	missense variant	-	NC_000001.11:g.33330141G>T	NCI-TCGA
rs765062816	p.Ala693Val	missense variant	-	NC_000001.11:g.33330138G>A	ExAC,gnomAD
rs751699611	p.Ala693Thr	missense variant	-	NC_000001.11:g.33330139C>T	ExAC,gnomAD
rs376159510	p.Arg697Cys	missense variant	-	NC_000001.11:g.33330127G>A	ESP,ExAC,TOPMed,gnomAD
rs530539754	p.Arg697His	missense variant	-	NC_000001.11:g.33330126C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374006014	p.Arg698His	missense variant	-	NC_000001.11:g.33330123C>T	ESP,ExAC,TOPMed,gnomAD
rs775270874	p.Arg698Cys	missense variant	-	NC_000001.11:g.33330124G>A	ExAC,TOPMed,gnomAD
rs773965245	p.Arg699Gly	missense variant	-	NC_000001.11:g.33330121G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg699Gln	missense variant	-	NC_000001.11:g.33330120C>T	NCI-TCGA
rs773965245	p.Arg699Trp	missense variant	-	NC_000001.11:g.33330121G>A	ExAC,gnomAD
rs1485419056	p.Ala703Gly	missense variant	-	NC_000001.11:g.33330108G>C	gnomAD
rs1162394641	p.Ser704Ile	missense variant	-	NC_000001.11:g.33330105C>A	TOPMed
rs369850251	p.Pro706Leu	missense variant	-	NC_000001.11:g.33330099G>A	ESP,ExAC,TOPMed,gnomAD
rs369850251	p.Pro706Gln	missense variant	-	NC_000001.11:g.33330099G>T	ESP,ExAC,TOPMed,gnomAD
rs778264042	p.Pro707Ser	missense variant	-	NC_000001.11:g.33330097G>A	ExAC,gnomAD
rs756454461	p.Leu708Pro	missense variant	-	NC_000001.11:g.33330093A>G	ExAC,gnomAD
rs1184991312	p.Thr709Ile	missense variant	-	NC_000001.11:g.33330090G>A	TOPMed
rs1272486308	p.Lys710Arg	missense variant	-	NC_000001.11:g.33330087T>C	gnomAD
COSM1341905	p.Lys710Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33330086C>A	NCI-TCGA Cosmic
rs906621985	p.Thr712Ile	missense variant	-	NC_000001.11:g.33330081G>A	TOPMed
rs1236993039	p.Lys713Arg	missense variant	-	NC_000001.11:g.33330078T>C	TOPMed
NCI-TCGA novel	p.Gln715Ter	stop gained	-	NC_000001.11:g.33330073G>A	NCI-TCGA
NCI-TCGA novel	p.Thr717Ile	missense variant	-	NC_000001.11:g.33329142G>A	NCI-TCGA
rs748499666	p.Gly718Ser	missense variant	-	NC_000001.11:g.33329140C>T	ExAC,gnomAD
COSM292660	p.Val720Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33329134C>T	NCI-TCGA Cosmic
rs1419807753	p.Pro721Ser	missense variant	-	NC_000001.11:g.33329131G>A	gnomAD
rs1175738034	p.Leu722Pro	missense variant	-	NC_000001.11:g.33329127A>G	gnomAD
rs781563100	p.Leu722Phe	missense variant	-	NC_000001.11:g.33329128G>A	ExAC,gnomAD
rs768906786	p.Ser723Leu	missense variant	-	NC_000001.11:g.33329124G>A	ExAC,TOPMed,gnomAD
rs780160242	p.Leu728Trp	missense variant	-	NC_000001.11:g.33329109A>C	ExAC,gnomAD
rs1263090823	p.Gln729Ter	stop gained	-	NC_000001.11:g.33329107G>A	gnomAD
rs1317039997	p.Thr731Ser	missense variant	-	NC_000001.11:g.33329101T>A	TOPMed,gnomAD
rs750569019	p.Thr731Lys	missense variant	-	NC_000001.11:g.33329100G>T	ExAC,gnomAD
rs1030766600	p.His732Tyr	missense variant	-	NC_000001.11:g.33329098G>A	TOPMed
rs756174825	p.Asp736Val	missense variant	-	NC_000001.11:g.33329085T>A	ExAC,gnomAD
rs752585543	p.Arg739His	missense variant	-	NC_000001.11:g.33329076C>T	ExAC,TOPMed,gnomAD
rs767307502	p.Pro749Ser	missense variant	-	NC_000001.11:g.33329047G>A	ExAC,gnomAD
rs767307502	p.Pro749Ala	missense variant	-	NC_000001.11:g.33329047G>C	ExAC,gnomAD
COSM72166	p.Leu750Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33329042C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro752His	missense variant	-	NC_000001.11:g.33329037G>T	NCI-TCGA
rs1294657850	p.Ile753Val	missense variant	-	NC_000001.11:g.33329035T>C	TOPMed,gnomAD
rs376869490	p.Ile753Met	missense variant	-	NC_000001.11:g.33329033G>C	ESP,ExAC,TOPMed,gnomAD
rs997492902	p.Ala755Asp	missense variant	-	NC_000001.11:g.33329028G>T	TOPMed
rs1395928559	p.Thr759Ile	missense variant	-	NC_000001.11:g.33329016G>A	gnomAD
rs1436600194	p.Thr759Ala	missense variant	-	NC_000001.11:g.33329017T>C	gnomAD
rs1193241428	p.Ser760Ala	missense variant	-	NC_000001.11:g.33329014A>C	gnomAD
rs766062595	p.Arg761Cys	missense variant	-	NC_000001.11:g.33329011G>A	ExAC,gnomAD
rs762446973	p.Arg761His	missense variant	-	NC_000001.11:g.33329010C>T	ExAC,TOPMed,gnomAD
rs762446973	p.Arg761Pro	missense variant	-	NC_000001.11:g.33329010C>G	ExAC,TOPMed,gnomAD
rs1187659551	p.Arg762Trp	missense variant	-	NC_000001.11:g.33329008G>A	gnomAD
rs1485846230	p.Arg762Gln	missense variant	-	NC_000001.11:g.33329007C>T	TOPMed,gnomAD
rs1330030515	p.Arg763Ter	stop gained	-	NC_000001.11:g.33329005G>A	TOPMed
rs752781137	p.Arg763Gln	missense variant	-	NC_000001.11:g.33329004C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly765Asp	missense variant	-	NC_000001.11:g.33328998C>T	NCI-TCGA
rs769308373	p.Arg767Trp	missense variant	-	NC_000001.11:g.33328993G>A	ExAC,TOPMed,gnomAD
rs1349411236	p.Arg767Gln	missense variant	-	NC_000001.11:g.33328992C>T	gnomAD
NCI-TCGA novel	p.Asp768Val	missense variant	-	NC_000001.11:g.33328989T>A	NCI-TCGA
rs762240475	p.Leu769Val	missense variant	-	NC_000001.11:g.33328987G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu771Arg	missense variant	-	NC_000001.11:g.33328980A>C	NCI-TCGA
rs769014714	p.Leu771Phe	missense variant	-	NC_000001.11:g.33328981G>A	ExAC,gnomAD
rs1382525651	p.Pro772Ser	missense variant	-	NC_000001.11:g.33328978G>A	gnomAD
rs1296199111	p.Asp773Asn	missense variant	-	NC_000001.11:g.33328975C>T	gnomAD
rs147872861	p.Met774Val	missense variant	-	NC_000001.11:g.33328972T>C	ESP,ExAC,TOPMed,gnomAD
rs1414711138	p.His775Arg	missense variant	-	NC_000001.11:g.33328968T>C	TOPMed
rs780290164	p.Met776Thr	missense variant	-	NC_000001.11:g.33328965A>G	ExAC,gnomAD
rs199838218	p.Arg777Trp	missense variant	-	NC_000001.11:g.33328963G>A	-
rs755452186	p.Arg777Gln	missense variant	-	NC_000001.11:g.33328962C>T	TOPMed,gnomAD
rs1464705973	p.Asp778His	missense variant	-	NC_000001.11:g.33328960C>G	gnomAD
rs540456341	p.Leu779Val	missense variant	-	NC_000001.11:g.33328957G>C	1000Genomes,ExAC,gnomAD
rs367846878	p.Val780Leu	missense variant	-	NC_000001.11:g.33328954C>G	ESP,ExAC,TOPMed,gnomAD
rs533362430	p.Val780Glu	missense variant	-	NC_000001.11:g.33328953A>T	gnomAD
rs1211812279	p.Met782Val	missense variant	-	NC_000001.11:g.33328948T>C	TOPMed
rs757449007	p.Gly783Arg	missense variant	-	NC_000001.11:g.33328945C>T	ExAC,gnomAD
rs1484952740	p.His784Asn	missense variant	-	NC_000001.11:g.33328942G>T	TOPMed
rs142354689	p.His784Arg	missense variant	-	NC_000001.11:g.33328941T>C	ESP,TOPMed
rs573125100	p.His785Gln	missense variant	-	NC_000001.11:g.33328937G>T	1000Genomes,ExAC,gnomAD
rs1239742372	p.His785Arg	missense variant	-	NC_000001.11:g.33328938T>C	TOPMed
rs373640921	p.Pro788Leu	missense variant	-	NC_000001.11:g.33328929G>A	ESP,ExAC,gnomAD
rs751380332	p.Ser789Thr	missense variant	-	NC_000001.11:g.33328926C>G	ExAC,gnomAD
rs754774534	p.Ser789Gly	missense variant	-	NC_000001.11:g.33328927T>C	ExAC,gnomAD
rs751380332	p.Ser789Ile	missense variant	-	NC_000001.11:g.33328926C>A	ExAC,gnomAD
rs1482082108	p.Glu790Lys	missense variant	-	NC_000001.11:g.33328924C>T	gnomAD
NCI-TCGA novel	p.Pro791Leu	missense variant	-	NC_000001.11:g.33328920G>A	NCI-TCGA
rs762536552	p.Trp794Arg	missense variant	-	NC_000001.11:g.33328912A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu797Gln	missense variant	-	NC_000001.11:g.33328903C>G	NCI-TCGA
rs1281217767	p.Glu797Gly	missense variant	-	NC_000001.11:g.33328902T>C	TOPMed
rs1222676018	p.Val799Ile	missense variant	-	NC_000001.11:g.33328897C>T	TOPMed
rs371688704	p.Arg804Cys	missense variant	-	NC_000001.11:g.33328882G>A	ESP,ExAC,gnomAD
rs575502626	p.Arg804His	missense variant	-	NC_000001.11:g.33328881C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371688704	p.Arg804Gly	missense variant	-	NC_000001.11:g.33328882G>C	ESP,ExAC,gnomAD
rs776051776	p.Ser805Ala	missense variant	-	NC_000001.11:g.33328879A>C	ExAC,TOPMed,gnomAD
rs1398926854	p.Ser805Cys	missense variant	-	NC_000001.11:g.33328878G>C	gnomAD
rs1434979259	p.Cys809Ser	missense variant	-	NC_000001.11:g.33325016C>G	gnomAD
rs1170609129	p.Gln810Glu	missense variant	-	NC_000001.11:g.33325014G>C	gnomAD
rs1159926732	p.Ile812Met	missense variant	-	NC_000001.11:g.33325006T>C	TOPMed,gnomAD
rs758166643	p.Ile812Thr	missense variant	-	NC_000001.11:g.33325007A>G	ExAC,gnomAD
rs756915317	p.Glu814Gly	missense variant	-	NC_000001.11:g.33325001T>C	ExAC,TOPMed,gnomAD
rs778530221	p.Glu814Gln	missense variant	-	NC_000001.11:g.33325002C>G	ExAC,gnomAD
rs753538669	p.Glu814Asp	missense variant	-	NC_000001.11:g.33325000C>G	ExAC,gnomAD
rs1442084176	p.Arg817Ser	missense variant	-	NC_000001.11:g.33324993G>T	gnomAD
rs763441902	p.Arg817His	missense variant	-	NC_000001.11:g.33324992C>T	ExAC,TOPMed,gnomAD
rs1442084176	p.Arg817Cys	missense variant	-	NC_000001.11:g.33324993G>A	gnomAD
rs1340498522	p.Gln819His	missense variant	-	NC_000001.11:g.33324985C>G	TOPMed,gnomAD
rs1216698518	p.Gln819Glu	missense variant	-	NC_000001.11:g.33324987G>C	gnomAD
NCI-TCGA novel	p.Ile821Met	missense variant	-	NC_000001.11:g.33324979G>C	NCI-TCGA
rs755677497	p.Ile821Thr	missense variant	-	NC_000001.11:g.33324980A>G	ExAC,gnomAD
COSM1321143	p.Asp822Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324976G>C	NCI-TCGA Cosmic
COSM681071	p.Gly823Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324975C>G	NCI-TCGA Cosmic
COSM2154877	p.Asp832Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324948C>A	NCI-TCGA Cosmic
COSM908420	p.Leu834Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324941A>G	NCI-TCGA Cosmic
rs150889883	p.Met835Ile	missense variant	-	NC_000001.11:g.33324937C>T	ESP
rs763020224	p.Ala837Thr	missense variant	-	NC_000001.11:g.33324933C>T	ExAC,gnomAD
rs1130798	p.Ala837Val	missense variant	-	NC_000001.11:g.33324932G>A	-
rs773515590	p.Ile840Val	missense variant	-	NC_000001.11:g.33324924T>C	ExAC,gnomAD
rs1169929138	p.Ile840Met	missense variant	-	NC_000001.11:g.33324922G>C	gnomAD
rs761929335	p.Ala845Thr	missense variant	-	NC_000001.11:g.33324909C>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr849Cys	missense variant	-	NC_000001.11:g.33324896T>C	NCI-TCGA
rs11554674	p.Tyr849Ter	stop gained	-	NC_000001.11:g.33324895G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1472472276	p.Ala850Thr	missense variant	-	NC_000001.11:g.33324894C>T	gnomAD
rs144099793	p.Ala850Asp	missense variant	-	NC_000001.11:g.33324893G>T	ESP,ExAC,gnomAD
rs745646687	p.Arg851His	missense variant	-	NC_000001.11:g.33324890C>T	ExAC,gnomAD
rs1206876788	p.Arg851Cys	missense variant	-	NC_000001.11:g.33324891G>A	TOPMed,gnomAD
rs376200315	p.Met854Arg	missense variant	-	NC_000001.11:g.33324881A>C	ESP,ExAC,TOPMed,gnomAD
rs1197083327	p.Asp857Val	missense variant	-	NC_000001.11:g.33324872T>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0020443	Hypercholesterolemia	disease	BEFREE
C0023418	leukemia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0042802	identical protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007275	multicellular organism development	IEA
GO:0007283	spermatogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000792	heterochromatin	IEA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0031519	PcG protein complex	IDA
GO:0035102	PRC1 complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1257604	PIP3 activates AKT signaling	IEA
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-2559580	Oxidative Stress Induced Senescence	TAS
R-HSA-2559583	Cellular Senescence	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-2990846	SUMOylation	IEA
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	IEA
R-HSA-3899300	SUMOylation of transcription cofactors	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-4551638	SUMOylation of chromatin organization proteins	TAS
R-HSA-4570464	SUMOylation of RNA binding proteins	TAS
R-HSA-4655427	SUMOylation of DNA methylation proteins	IEA
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-597592	Post-translational protein modification	IEA
R-HSA-6807070	PTEN Regulation	IEA
R-HSA-6807070	PTEN Regulation	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878171	Transcriptional regulation by RUNX1	TAS
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	TAS
R-HSA-8943724	Regulation of PTEN gene transcription	IEA
R-HSA-8943724	Regulation of PTEN gene transcription	TAS
R-HSA-8953897	Cellular responses to external stimuli	TAS
R-HSA-9006925	Intracellular signaling by second messengers	IEA
R-HSA-9006925	Intracellular signaling by second messengers	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PHC2 mRNA	28628672
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of PHC2 mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHC2 mRNA	27188386
C496492	abrine	abrine results in increased expression of PHC2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of PHC2 mRNA	26690555
D000082	Acetaminophen	Acetaminophen affects the expression of PHC2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PHC2 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of PHC2 exon	30157460
D001151	Arsenic	Arsenic affects the methylation of PHC2 gene	25304211
D001280	Atrazine	Atrazine affects the expression of PHC2 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PHC2 mRNA	22228805
C006780	bisphenol A	bisphenol A affects the expression of PHC2 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased methylation of PHC2 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased expression of PHC2 mRNA	25181051; 30816183;
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PHC2 mRNA	28628672
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PHC2 mRNA	27339419
D002330	Carmustine	PHC2 mRNA affects the susceptibility to Carmustine	16365179
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PHC2 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of PHC2 mRNA	25562108
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PHC2 mRNA	28628672
D004041	Dietary Fats	Dietary Fats results in decreased expression of PHC2 mRNA	25016146
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHC2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of PHC2 mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of PHC2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHC2 mRNA	27188386
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PHC2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PHC2 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHC2 mRNA	17942748
D005557	Formaldehyde	Formaldehyde results in decreased expression of PHC2 mRNA	20655997
C069837	fullerene C60	fullerene C60 results in increased expression of PHC2 mRNA	19167457
D005839	Gentamicins	Gentamicins results in increased expression of PHC2 mRNA	22061828
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of PHC2 mRNA	17183730
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PHC2 mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PHC2 mRNA	25613284
C410337	K 7174	K 7174 results in increased expression of PHC2 mRNA	24086573
D007854	Lead	Lead affects the expression of PHC2 mRNA	28903495
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of PHC2 mRNA	29191790
C028007	nickel monoxide	nickel monoxide results in increased expression of PHC2 mRNA	19167457
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of PHC2 mRNA	23892564
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PHC2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of PHC2 mRNA	17426115
C006253	pirinixic acid	pirinixic acid results in increased expression of PHC2 mRNA	18301758
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of PHC2 mRNA	19059307
C105686	SU 5402	SU 5402 results in decreased expression of PHC2 mRNA alternative form	15707958
D000077210	Sunitinib	Sunitinib results in increased expression of PHC2 mRNA	31533062
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of PHC2 mRNA	19059307
D013629	Tamoxifen	Tamoxifen affects the expression of PHC2 mRNA	17555576
D000077204	Temozolomide	PHC2 mRNA affects the susceptibility to Temozolomide	16365179
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PHC2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHC2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PHC2 gene]	20819909
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PHC2 mRNA	20159946
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PHC2 mRNA	17942748; 20819909;
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PHC2 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in increased expression of PHC2 mRNA	29264374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PHC2 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PHC2 mRNA	28111298
C012589	trichostatin A	trichostatin A results in increased expression of PHC2 mRNA	22723015
D014260	Triclosan	Triclosan results in increased expression of PHC2 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of PHC2 mRNA	26179874
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of PHC2 mRNA	17183730
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHC2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PHC2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PHC2 mRNA	23179753; 24935251; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of PHC2 gene	25560391
D014810	Vitamin E	Vitamin E results in increased expression of PHC2 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001660	SAM
IPR013761	SAM/pointed_sf
IPR012313	Znf_FCS
IPR038603	Znf_FCS_sf

PROSITE

PROSITE ID	PROSITE Term
PS50105	SAM_DOMAIN
PS51024	ZF_FCS

Pfam

Pfam ID	Pfam Term
PF00536	SAM_1

Gene: PHC2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction